The SGCB gene, also known as sarcoglycan beta (dystrophin-associated glycoprotein 2), is one of several genes involved in the formation of a protein complex called the sarcoglycan complex. Mutations in this gene can lead to muscular dystrophy and other genetic…
The ANO5 gene, also known as Anoctamin 5, is a gene that is related to a group of proteins called anoctamins. These proteins are involved in ion channel activity and are found in various tissues in the body, including muscles.…
The 16p11.2 duplication is a rare genetic condition that is caused by an extra copy of a specific region of chromosome 16 called 16p11.2. This condition affects the normal functioning of certain genes in the duplicated region, leading to a…
Nail-patella syndrome (NPS), also known as hereditary onychoosteodysplasia or iliac horn syndrome, is a rare genetic condition that is usually associated with abnormalities of the nails and skeletal system. NPS is caused by mutations in the LMX1B gene, which encodes…
The STING1 gene is a crucial component of the human immune system. It plays a significant role in sensing and responding to viral and microbial infections. STING1, also known as stimulator of interferon genes, is involved in the production of…
Christianson syndrome is a rare genetic condition that occurs in males. It was first described by Christianson and Tarpey in 2009 and is caused by mutations in the SLC9A6 gene on the X chromosome. This gene plays a role in…
The ABCG2 gene, also known as the ATP-binding cassette sub-family G member 2 gene, is listed in various genetic databases and resources. It is related to a group of genes that affect the ability of protein transport in the body.…
Lung cancer is a national and global health issue, as it is one of the most common and deadly cancers worldwide. It is primarily caused by smoking, but there are other risk factors such as exposure to certain chemicals and…
The XK gene is an important gene that plays a significant role in the immune system. It is responsible for encoding a protein that is found on the surface of red blood cells and other cells in the body. This…
The KCNH2 gene, also known as hERG, encodes the potassium voltage-gated channel subfamily H member 2. This gene is catalogued in various databases and is associated with several cardiac disorders. Mutations in the KCNH2 gene have been linked to the…